cDNA level identifier (n.a.):

c.1493+1G>A

Gene level identifier:

g.73579G>A

Archive identifier/Other designation:

IVS12+1G>A

Reference, alternative allele:

G, A

Genomic location

not available

Gene name:

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

6 heterozygous, 1 compound heterozygous (7 in total).